Neurofibromatosis type 1: Expanded variant spectrum with multiplex ligation-dependent probe amplification and genotype-phenotype correlation in 138 Turkish patients

GÜNEŞ N., Yesil G., Geyik F., Kasap B., Celkan T., Kebudi R., ...Daha Fazla

ANNALS OF HUMAN GENETICS, cilt.85, ss.155-165, 2021 (SCI-Expanded, Scopus)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 85
  • Basım Tarihi: 2021
  • Doi Numarası: 10.1111/ahg.12422
  • Dergi Adı: ANNALS OF HUMAN GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, International Bibliography of Social Sciences, BIOSIS, CAB Abstracts, EMBASE, MEDLINE, zbMATH
  • Sayfa Sayıları: ss.155-165
  • İstanbul Üniversitesi-Cerrahpaşa Adresli: Evet

Özet

Objective To investigate the variant spectrum and genotype-phenotype correlations in a Turkish cohort with Neurofibromatosis Type-1 (NF1).